RESUMO

BACKGROUND: Self-measurement of blood pressure (SMBP) is endorsed by current guidelines for diagnosing and managing hypertension (HTN). We surveyed individuals in a rural healthcare system on practices and attitudes related to SMBP that could guide future practice. METHODS: Survey questions were sent via an online patient portal to a random sample of 56,275 patients with either BP > 140/90 mm Hg or cardiovascular care in the system. Questions addressed home blood pressure (BP) monitor ownership, use, willingness to purchase, desire to share data with providers, perceptions of patient education, and patient-centeredness of care. Multivariable logistic regression was used to examine patient characteristics associated with SMBP behaviors. RESULTS: The overall response rate was 12%, and 8.4% completed all questions. Most respondents, 60.9%, owned a BP monitor, while 51.5% reported checking their BP at home the month prior. Among device owners, 45.1% reported receiving instructions on SMBP technique, frequency, and reading interpretation. Only 29.2% reported sharing readings with providers in the last 6 months, whereas 57.9% said they would be willing to do so regularly. Older age, female sex, and higher income were associated with a higher likelihood of device ownership. Younger age, lower income, and Medicaid insurance were associated with a greater willingness to share SMBP results with providers regularly. CONCLUSIONS: While a significant proportion of respondents performed SMBP regularly, many reported insufficient education on SMBP, and few shared their home BP readings with providers. Patient-centered interventions and telemedicine-based care are opportunities that emerged in our survey that could enhance future HTN care.

Assuntos

Conhecimentos, Atitudes e Prática em Saúde , Hipertensão , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Hipertensão/diagnóstico , Hipertensão/fisiopatologia , Hipertensão/psicologia , Idoso , Adulto , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Serviços de Saúde Rural , Autocuidado , Determinação da Pressão Arterial , Educação de Pacientes como Assunto , Percepção

RESUMO

Introduction: Our knowledge of X-linked Alport Syndrome [AS] comes mostly from selected cohorts with more severe disease. Methods: We examined the phenotypic spectrum of X-linked AS in males and females with a genotype-based approach using data from the Geisinger MyCode DiscovEHR study, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A5 variants reported as pathogenic (P) or likely pathogenic (LP) in ClinVar, or protein-truncating variants (PTVs), were each matched with up to 5 controls without COL4A3/4/5 variants by sociodemographics, diabetes diagnosis, and year of first outpatient encounter. AS-related phenotypes included dipstick hematuria, bilateral sensorineural hearing loss (BSHL), proteinuria, decreased eGFR, and ESKD. Results: Out of 170,856 patients, there were 29 hemizygous males (mean age 52.0 y [SD 20.0]) and 55 heterozygous females (mean age 59.3 y [SD 18.8]) with a COL4A5 P/LP variant, including 48 with the hypomorphic variant p.Gly624Asp. Overall, penetrance (having any AS phenotypic feature) was highest for non-p.Gly624Asp P/LP variants (males: 94%, females: 85%), intermediate for p.Gly624Asp (males: 77%, females: 69%), compared to controls (males: 32%; females: 50%). The proportion with ESKD was highest for males with P/LP variants (44%), intermediate for males with p.Gly624Asp (15%) and females with P/LP variants (10%), compared to controls (males: 3%, females 2%). Only 47% of individuals with COL4A5 had completed albuminuria screening, and a minority were taking renin-angiotensin aldosterone system (RAAS) inhibitors. Only 38% of males and 16% of females had a known diagnosis of Alport syndrome or thin basement membrane disease. Conclusion: In an unselected cohort, we show increased risks of AS-related phenotypes in men and women compared to matched controls, while showing a wider spectrum of severity than has been described previously and variability by genotype. Future studies are needed to determine whether early genetic diagnosis can improve outcomes in Alport Syndrome.